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Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
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Názov Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation Autor Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Spoluautori Škopková Martina Brennerová Katarína Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzdúch Vladimír Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Zdroj.dok. Diabetes Research and Clinical Practice. Vol. 126 (2017) p. 144-150 Jazyk dok. eng - angličtina Krajina IE - Írsko Druh dok. rozpis článkov z periodík (rbx) Ohlasy DEMIRBILEK, Huseyin - HUSSAIN, Khalid. Congenital Hyperinsulinism: Diagnosis and Treatment Update. In JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY. ISSN 1308-5727, 2017, vol. 9, pp. 69-87. DEMIRBILEK, Huseyin - RAHMAN, Sofia A. - BUYUKYILMAZ, Gonul Gulal - HUSSAIN, Khalid. Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology. In INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY. ISSN 1687-9848, 2017. GALCHEVA, Sonya - AL-KHAWAGA, Sara - HUSSAIN, Khalid. Diagnosis and management of hyperinsulinaemic hypoglycaemia. In BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM. ISSN 1521-690X, 2018, vol. 32, no. 4, pp. 551-573. YEH, Matthew M. - BOSCH, Dustin E. - DAOUD, Sayed S. Role of hepatocyte nuclear factor 4-alpha in gastrointestinal and liver diseases. In WORLD JOURNAL OF GASTROENTEROLOGY. ISSN 1007-9327, 2019, vol. 25, no. 30, pp. 4074-4091. VAXILLAIRE, Martine - FROGUEL, Philippe - BONNEFOND, Amelie. How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young. In CURRENT DIABETES REPORTS. ISSN 1534-4827, 2019, vol. 19, no. 9, pp. GALCHEVA, Sonya - DEMIRBILEK, Huseyin - AL-KHAWAGA, Sara - HUSSAIN, Khalid. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism. In FRONTIERS IN ENDOCRINOLOGY. ISSN 1664-2392, 2019, vol. 10, no., pp. SMITH, Hadley Stevens - SWINT, J. Michael - LALANI, Seema R. - YAMAL, Jose-Miguel - OTTO, Marcia C. de Oliveira - CASTELLANOS, Stephan - TAYLOR, Amy - LEE, Brendan H. - RUSSELL, Heidi V. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. In GENETICS IN MEDICINE. ISSN 1098-3600, 2019, vol. 21, no. 1, pp. 3-16. XU, Zidi - HUI, Peipei - ZHANG, Lin - ZENG, Qiao - WU, Yujun - SANG, Yanmei. Hepatocyte nuclear factor 4α hyperinsulinemia: a case report and literature review. In Chinese Journal of Diabetes Mellitus. ISSN 16745809, 2020-05-27, 12, 5, pp. 323-327. LOU, Lili - FU, Hongling - LIU, Hanmin. Literatures analysis on efficacy and safety of diazoxide in treatment of children with congenital hyperinsulinemia. In Chinese Journal of Obstetrics and Gynecology and Pediatrics, 2020-06-01, 16, 3, pp. 288-298. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2017 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.diabres.2017.02.014 článok
Summary report of zoonoses, food-borne and water-borne diseases in the Slovak republic in 2018SpoluautoriBlaňarová Lucia SAVPARAZ - Parazitologický ústav SAVBoldišová Eva 1977 SAVBIOMED - Biomedicínske centrum SAVČabanová Viktória SAVPARAZ - Parazitologický ústav SAVDerdáková Markéta SAVZOOL - Ústav zoológie SAVrok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2017 2016 3.639 Q2 1.531 Q1 Csank Tomáš Čabanová Viktória SAVPARAZ - Parazitologický ústav SAV Čechová Eva Čisláková L. Čuvalová Zuzana Derdáková Markéta SAVZOOL - Ústav zoológie SAV Fulová Miriam Gadusová Gabriela Gašpar Gabriel Gavačová Dagmar Gažiová A. Gičová Anna Goczeová Jana Hanzelyová Anna Jacková Anna Janáková Alžbeta Jerg Slavomír Kasenčák Martin Kerlik Jana Klempa Boris 1976 SAVBIOMED - Biomedicínske centrum SAV Kocianová Henrieta Kološová Andrea Korytár Ľuboš Korytárová Daniela Kotrbancová Martina Kováčová D. Kotvasová Barbora Kubicová Zuzana Kuzmiak Theiszová Marica Kvietková Daniela Ličková Martina 1975 SAVBIOMED - Biomedicínske centrum SAV Macháčová E. Medveďová Alžbeta
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